Full name: bestrophin 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: VMD2L1

Summary: This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]

Expression: Restricted expression toward colon (RPKM 11.0)

Gene size: 6668bp

Exon count: 10